The coding exons and flanking consensus splice sites of the NF1 gene are amplified using specific primers, and bidirectionally sequenced using a fluorescent method
Analysis for the presence of sequence variants in the NF1gene (OMIM: 613113) in patients with a phenotype consistent with Neurofibromatosis type I (NF1, OMIM:16200).
*Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Interpretive report provided
This assay will not detect large deletions in the NF1 gene or deep intronic variants outside the region sequenced in the NF1 gene.
- Neurofibromatosis Type 1 (NF1) Gene Sequencing
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
Insurance prior authorization may be needed for this genetic test. Please inquire with the patient's insurance company to determine if a prior authorization is necessary for payment. By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.